Decreased mitochondrial D-loop region methylation mediates an increase in mitochondrial DNA copy number in CADASIL.

ABSTRACT:

Background

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a typical neurodegenerative disease associated with mitochondrial dysfunction. Methylation of the D-loop region and mitochondrial DNA copy number (mtDNAcn) play a critical role in the maintenance of mitochondrial function. However, the association between D-loop region methylation, mtDNAcn and CADASIL remains unclear.

Methods

Overall, 162 individuals were recruited, including 66 CADASIL patients and 96 age- and sex-matched controls. After extracting genomic DNA from the peripheral white blood cells, levels of D-loop methylation and mtDNAcn were assessed using MethylTarget sequencing and real-time PCR, respectively.

Results

We observed increased mtDNAcn an

SUBMITTER: Zhang J 

PROVIDER: S-EPMC8725280 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature